IRIS
BALLABIO, ANDREA
 Distribuzione geografica
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Continente #
NA - Nord America 5.574
EU - Europa 3.738
AS - Asia 756
AF - Africa 48
Continente sconosciuto - Info sul continente non disponibili 9
OC - Oceania 3
SA - Sud America 3
Totale 10.131
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Nazione #
US - Stati Uniti d'America 5.413
UA - Ucraina 1.251
IT - Italia 874
CN - Cina 657
FI - Finlandia 373
DE - Germania 315
NL - Olanda 249
SE - Svezia 245
IE - Irlanda 190
GB - Regno Unito 171
CA - Canada 156
FR - Francia 48
CI - Costa d'Avorio 47
IN - India 21
VN - Vietnam 17
SG - Singapore 16
EU - Europa 9
JP - Giappone 9
BD - Bangladesh 8
TR - Turchia 8
HK - Hong Kong 7
KR - Corea 6
BG - Bulgaria 4
ES - Italia 4
AT - Austria 3
AU - Australia 3
BE - Belgio 3
PL - Polonia 3
BZ - Belize 2
CL - Cile 2
HR - Croazia 2
MX - Messico 2
PH - Filippine 2
BH - Bahrain 1
CH - Svizzera 1
EC - Ecuador 1
EE - Estonia 1
IL - Israele 1
IR - Iran 1
KE - Kenya 1
PA - Panama 1
SA - Arabia Saudita 1
SK - Slovacchia (Repubblica Slovacca) 1
TW - Taiwan 1
Totale 10.131
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Città #
Jacksonville 1.246
Chandler 742
Princeton 381
Millbury 286
Ashburn 246
Amsterdam 227
Nanjing 220
Wilmington 216
Naples 196
Woodbridge 153
Ottawa 148
Boston 123
Napoli 120
Ann Arbor 105
Des Moines 100
Beijing 94
Nanchang 69
Lawrence 58
Norwalk 54
Shenyang 49
Hebei 48
Houston 48
Jiaxing 48
Changsha 37
Boardman 29
Orange 27
Tianjin 25
Torino 24
Washington 24
Falls Church 19
Dearborn 16
Dong Ket 16
Guangzhou 16
Milan 15
Dublin 12
Kunming 12
Redwood City 12
Kronberg 10
New York 10
Padova 10
London 9
Aviano 8
Hangzhou 8
Los Angeles 8
Villaricca 8
Bengaluru 7
Canegrate 7
Fairfield 7
Lappeenranta 7
Rome 7
Seattle 7
Singapore 7
Avellino 6
Caserta 6
Cologne 6
Dhaka 6
Paris 6
Pune 6
San Jose 6
Verona 5
Castellammare di Stabia 4
Changchun 4
Florence 4
Marsicovetere 4
Menlo Park 4
Mountain View 4
Palermo 4
Simi Valley 4
Sofia 4
Aprilia 3
Atlanta 3
Aversa 3
Bari 3
Bologna 3
Boscoreale 3
Carrara 3
Dresden 3
Edinburgh 3
Fort Worth 3
Frankfurt am Main 3
Fremont 3
Fuzhou 3
Gwanak-gu 3
Hanover 3
Indiana 3
Islington 3
Philadelphia 3
Pozzuoli 3
Redmond 3
Salerno 3
Seoul 3
Shanghai 3
Sunnyvale 3
Sydney 3
Tokyo 3
Trecase 3
Turin 3
Walnut 3
Wuhan 3
Belize City 2
Totale 5.556
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Nome #
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) 108
Telencephalic embryonic subtractive sequences: a unique collection of neurodevelopmental genes. 98
The European dimension for the mouse genome mutagenesis program. 93
Light-responsive microRNA miR-211 targets Ezrin to modulate lysosomal biogenesis and retinal cell clearance 90
The DNA sequence of the human X chromosome 88
Sulfatases and human disease. 88
Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship. 85
Molecular cloning and characterization of NEU4, the fourth member of the human sialidase gene family. 85
The Ocular Albinism type 1 (OA!) gene controls melanosome maturation and size. 85
Tagging genes with cassette-exchange sites. 83
DG-CST (DISEASE GENE CONSERVED SEQUENCE TAGS), A DATABASE OF HUMAN-MOUSE CONSERVED ELEMENTS ASSOCIATED TO DESEASE GENES. 75
Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum. 67
Aberrant autophagic vesicles in the lymphocytes from patients affected with Ataxia-Telangiectasia 66
Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis 64
Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. 60
Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44. 59
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 55
Cell metabolism: autophagy transcribed. 51
DG-CST (Disease Gene Conserved Sequence Tags), a database of human�mouse conserved elements associated to disease genes 45
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. 45
A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes. 45
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. 44
Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders 44
A defect of midline development, Opitz syndrome, is due to mutations in a novel RING finger gene on Xp22 43
Correction of Hunter syndrome via gene delivery using the MPSII mouse model. 43
Lysosomal calcium signalling regulates autophagy through calcineurin and ​TFEB 43
Activation of the transcription factor EB rescues lysosomal abnormalities in cystinotic kidney cells 42
A mammalian homolog of the Drosophila retinal degeneration B gene: implications for the evolution of phototransduction mechanisms. 40
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency 40
MiT/TFE factors control ER-phagy via transcriptional regulation of FAM134B 40
A substrate-specific mTORC1 pathway underlies Birt–Hogg–Dubé syndrome 40
Multiple Sulfatase Deficiency is Due to Hypomorphic Mutations of the SUMF1 Gene 39
A 5' regulatory sequence containing two Ets motifs controls the expression of the Wiskott-Aldrich syndrome protein (WASP) gene in human hematopoietic cells 39
Lysosomal storage diseases: from pathophysiology to therapy. 39
Abnormal cell-clearance and accumulation of autophagic vesicles in lymphocytes from patients affected with Ataxia-Teleangiectasia 39
Amplification and overexpression of PRUNE in human sarcomas and breast carcinomas – a possible mechanism for altering the nm23-H1 activity. 38
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. 38
A method to direct sequence cosmid LAWRIST16 clones. 37
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance 37
Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition 37
Lysosome signaling controls the migration of dendritic cells 37
A Block of Autophagy in Lysosomal Storage Disorders 36
A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis 36
Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency. 36
Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2 36
Lack of sik1 in mouse embryonic stem cells impairs cardiomyogenesis by down-regulating the cyclin-dependent kinase inhibitor p57kip2 36
A BglII polymorphism in the COL4A6 gene. 35
A regulatory element within the 5’ flanking sequence of the Wiskott-Aldrich syndrome (WASP) gene controls expression in human hematopoietic cells 35
Molecular Cytogenetics of Contiguous Gene Syndromes: Mechanisms and Consequences of Gene Dosage Imbalance. 35
Lysosomal storage diseases as disorders of autophagy 35
JTESS (Telencephalic Embryonic Subtractive Sequences): a Unique Collection of Neurodevelopmental Genes. 34
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1. 34
A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-liked nonspecific mental retardation. 34
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. 34
A human homolog of the Drosophila retinal degeneration C (rdgC) gene encodes a novel serine threonine phosphatase selectively expressed in sensory neurons of neural crest origin 34
Transcriptional activation of RagD GTPase controls mTORC1 and promotes cancer growth 34
Microphthalmia with Linear Skin defects (MLS) syndrome: clinical, cytogenetic and molecular characterization of 11 cases. American Journal Medical Genetics 33
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. . 33
X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadism and anosmia): linkage relationships with Xg and cloned sequences from the distal short arm of the X-chromosome 33
Deletions of the steroid sulphatase gene in "classical" X-linkedichthyosis and in X-linked ichthyosis associated with Kallmann syndrome 33
A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. 33
GADD34 is a modulator of autophagy during starvation 33
A 5’ regulatory sequence containing two Ets motifs controls the expression of the Wiskott Aldrich syndrome protein (WASP) gene in human haematopoietic cells. 32
A novel human serine-threonine phosphatase related to the Drosophila retinal degeration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin. 32
A novel X-linked member of the human zinc finger protein gene family: isolation, mapping, and expression. 32
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). 32
A high resolution deletion map of the human chromosome Xp22. 32
Variable penetrance of hypogonadism in a sibship with Kallamann syndrome due to a deletion of the KAL gene 32
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability 32
Histone methyl-transferases and demethylases in the autophagy regulatory network: the emerging role of KDM1A/LSD1 demethylase 32
The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases 31
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. 31
X-inactivation and human disease: X-linked dominant male-lethal disorders. 30
Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. 30
An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3. 30
Diversity, parental germline origin and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. 30
New mutations identified in the ocular albinism type 1 gene. 30
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3b-hydroxysteroid-D5-desaturase 30
A new gene on Xp22.3 escapes X-inactivation. 30
Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. 30
Phosphorylation-regulated degradation of the tumor-suppressor form of PED by chaperone-mediated autophagy in lung cancer cells 30
Efficacy of a combined intracerebral and systemic gene delivery approach for the treatment of a severe lysosomal storage disorder. 30
Modelling TFE renal cell carcinoma in mice reveals a critical role of WNT signaling 30
Activation of JNK pathway aggravates proteotoxicity of hepatic mutant Z alpha1-antitrypsin 30
Methods to Monitor and Manipulate TFEB Activity During Autophagy 30
mTOR-dependent phosphorylation controls TFEB nuclear export 30
Nutrient-sensitive transcription factors TFEB and TFE3 couple autophagy and metabolism to the peripheral clock 30
EGR1 drives cell proliferation by directly stimulating TFEB transcription in response to starvation 29
A Member of a Gene Family on Xp22.3, VCX-A, Is Deleted in Patients with X-Linked Nonspecific Mental Retardation 29
Isolation and characterization of a steroid sulphatase cDNA clone: genomic deletions in patients with X-chromosome linked ichthyosis 29
Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients, at DNA and protein levels. 29
Cystic fibrosis: a disorder with defective autophagy 29
A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA. 29
The ocular albinism type 1 (OA1) gene controls melanosome maturation and size. 29
TFEB at a glance 29
Transcription Factor EB Controls Metabolic Flexibility during Exercise 29
TFEB regulates murine liver cell fate during development and regeneration 29
Evidence for interaction between human PRUNE and nm23-H1 NDPKinase. 28
Safety of Arylsulfatase A Overexpression for Gene Therapy of Metachromatic Leukodystrophy. 28
Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1 28
Totale 4.198
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Categoria #
all - tutte 44.392
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 44.392
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201929 0 0 0 0 0 0 0 0 0 0 17 12
2019/20201.693 476 18 248 12 278 12 39 16 46 78 125 345
2020/20212.363 29 256 316 266 263 313 276 19 287 22 281 35
2021/20221.623 33 9 16 55 36 64 31 89 222 126 347 595
2022/20232.011 458 151 35 146 215 196 35 172 250 236 77 40
2023/20241.410 68 213 239 124 89 145 41 117 24 51 299 0
Totale 10.627